A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia

Frank Griesinger; Heike Hennig; Frauke Hillmer; Martina Podleschny; Rainer Steffens; Andreas Pies; Bernhard Wörmann; Detlef Haase; Stefan K Bohlander

doi:10.1002/gcc.20235

A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia

Genes Chromosomes Cancer. 2005 Nov;44(3):329-33. doi: 10.1002/gcc.20235.

Authors

Frank Griesinger¹, Heike Hennig, Frauke Hillmer, Martina Podleschny, Rainer Steffens, Andreas Pies, Bernhard Wörmann, Detlef Haase, Stefan K Bohlander

Affiliation

¹ Department of Hematology and Oncology, University of Göttingen, Robert-Koch-Strasse 40, D-37075 Göttingen, Germany. [email protected]

PMID: 16001431
DOI: 10.1002/gcc.20235

Abstract

Chronic myeloid leukemia (CML) is characterized by the presence of a t(9;22)(q34;q11.2), which leads to the well-known BCR-ABL1 fusion protein. We describe a patient who was diagnosed clinically with a typical CML but on cytogenetic analysis was found to have a t(9;22)(p24;q11.2). Chromosomal fluorescence in situ hybridization showed that the BCR gene locus spanned the breakpoint at band 22q11.2 but that the ABL1 gene was not rearranged. By means of a candidate gene approach, the JAK2 gene, at 9p24, was identified as the fusion partner of BCR in this case. The BCR-JAK2 fusion protein contains the coiled-coil dimerization domain of BCR and the protein tyrosine kinase domain (JH1) of JAK2. The patient's disease did not respond to Imatinib, and this unresponsiveness was most likely a result of the BCR-JAK2 fusion protein.

Publication types

Case Reports
Review

MeSH terms

Antineoplastic Agents / therapeutic use
Benzamides
Chromosomes, Human, Pair 22 / genetics*
Chromosomes, Human, Pair 9 / genetics*
Female
Humans
Imatinib Mesylate
In Situ Hybridization, Fluorescence
Janus Kinase 2
Karyotyping
Leukemia, Myelogenous, Chronic, BCR-ABL Positive / drug therapy
Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
Middle Aged
Oncogene Proteins, Fusion / genetics*
Piperazines / therapeutic use
Protein-Tyrosine Kinases / genetics*
Proto-Oncogene Proteins / genetics*
Proto-Oncogene Proteins c-bcr / genetics*
Pyrimidines / therapeutic use
Translocation, Genetic / genetics*

Substances

Antineoplastic Agents
Benzamides
Oncogene Proteins, Fusion
Piperazines
Proto-Oncogene Proteins
Pyrimidines
Imatinib Mesylate
Protein-Tyrosine Kinases
JAK2 protein, human
Janus Kinase 2
BCR protein, human
Proto-Oncogene Proteins c-bcr